Indel | NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) | SCN5A | Likely pathogenic | 3 | 38622828 | 38622829 | GA | TT | criteria provided, single submitter | ClinGen:CA016545,OMIM:600163.0015 |
single nucleotide variant | NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) | SCN5A | Likely pathogenic | 3 | 38639278 | 38639278 | G | A | criteria provided, single submitter | ClinGen:CA015951,UniProtKB:Q14524#VAR_017674,OMIM:600163.0022 |
single nucleotide variant | NM_000335.5(SCN5A):c.4856C>T (p.Thr1619Met) | SCN5A | Likely pathogenic | 3 | 38593004 | 38593004 | G | A | criteria provided, multiple submitters, no conflicts | ClinVar:440848,ClinGen:CA018653,UniProtKB:Q14524#VAR_017684,OMIM:600163.0004 |
Deletion | NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) | PKP2 | Likely pathogenic | 12 | 33003706 | 33003709 | ATTTG | A | criteria provided, single submitter | ClinGen:CA010987 |
Deletion | NM_001005242.3(PKP2):c.1577del (p.Ala526fs) | PKP2 | Likely pathogenic | 12 | 32977076 | 32977076 | AG | A | criteria provided, single submitter | ClinGen:CA011338 |
single nucleotide variant | NM_001005242.3(PKP2):c.1987C>T (p.Gln663Ter) | PKP2 | Likely pathogenic | 12 | 32974316 | 32974316 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011724 |
Indel | NM_001005242.3(PKP2):c.951_983delinsAC (p.His318fs) | PKP2 | Likely pathogenic | 12 | 33030831 | 33030863 | CCCCCTGCGGCCGCCTGGCCGACAGTCAAGTGC | GT | criteria provided, single submitter | ClinGen:CA012570 |
single nucleotide variant | NM_000238.4(KCNH2):c.1280A>G (p.Tyr427Cys) | KCNH2 | Likely pathogenic | 7 | 150649790 | 150649790 | T | C | criteria provided, single submitter | ClinGen:CA004393,UniProtKB:Q12809#VAR_074811 |
single nucleotide variant | NM_000238.4(KCNH2):c.1478A>G (p.Tyr493Cys) | KCNH2 | Likely pathogenic | 7 | 150649592 | 150649592 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA004695,UniProtKB:Q12809#VAR_074821 |
single nucleotide variant | NM_000238.4(KCNH2):c.1673C>A (p.Ala558Glu) | KCNH2 | Likely pathogenic | 7 | 150648808 | 150648808 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004976,UniProtKB:Q12809#VAR_074827 |